WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116832883_116832889del | CA2616111296 | APOC3 | c.299_*5del (n.[c.299_*5del;Ter100SerextTer?]) c.353_*5del (n.[c.353_*5del;Ter118SerextTer?]) c.353_359del (n.[c.353_359del;Ter118SerextTer?]) | gnomAD v4 |
| 11 | g.116832881C>A | CA476868984 | APOC3 | c.297C>A (p.Ala99=) c.351C>A (p.Ala117=) | |
| 11 | g.116832881C>G | CA476868982 | APOC3 | c.297C>G (p.Ala99=) c.351C>G (p.Ala117=) | |
| 11 | g.116832881C>T | CA476868983 | APOC3 | c.297C>T (p.Ala99=) c.351C>T (p.Ala117=) | |
| 11 | g.116832882T>A | CA382711824 | APOC3 | c.298T>A (p.Ter100Arg) c.352T>A (p.Ter118Arg) | dbSNP |
| 11 | g.116832882T>C | CA382711825 | APOC3 | c.298T>C (p.Ter100Arg) c.352T>C (p.Ter118Arg) | |
| 11 | g.116832882T>G | CA382711826 | APOC3 | c.298T>G (p.Ter100Gly) c.352T>G (p.Ter118Gly) | gnomAD v4 |
| 11 | g.116832882T= | CA2002760320 | APOC3 | c.298T= (p.Ter100=) c.352T= (p.Ter118=) | |
| 11 | g.116832883G>A | CA6289709 | APOC3 | c.299G>A (p.Ter100=) c.353G>A (p.Ter118=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832883G>C | CA382711829 | APOC3 | c.299G>C (p.Ter100Ser) c.353G>C (p.Ter118Ser) | |
| 11 | g.116832883G= | CA2002760321 | APOC3 | c.299G= (p.Ter100=) c.353G= (p.Ter118=) | |
| 11 | g.116832883G>T | CA382711827 | APOC3 | c.299G>T (p.Ter100Leu) c.353G>T (p.Ter118Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832884A>C | CA382711834 | APOC3 | c.300A>C (p.Ter100Cys) c.354A>C (p.Ter118Cys) | |
| 11 | g.116832884A>G | CA382711835 | APOC3 | c.300A>G (p.Ter100Trp) c.354A>G (p.Ter118Trp) | |
| 11 | g.116832884A>T | CA382711837 | APOC3 | c.300A>T (p.Ter100Cys) c.354A>T (p.Ter118Cys) | |
| 11 | g.116832885G>A | CA2574986582 | APOC3 | c.*1G>A (n.*1G>A) c.355G>A (n.355G>A) | gnomAD v4 |
| 11 | g.116832885G>C | CA2002760323 | APOC3 | c.*1G>C (n.*1G>C) c.355G>C (n.355G>C) | dbSNP |
| 11 | g.116832885G= | CA2002760322 | APOC3 | c.*1G= (n.*1G=) c.355G= (n.355G=) | |
| 11 | g.116832886A= | CA2002760324 | APOC3 | c.*2A= (n.*2A=) c.356A= (n.356A=) | |
| 11 | g.116832886A>C | CA2002760325 | APOC3 | c.*2A>C (n.*2A>C) c.356A>C (n.356A>C) | dbSNP gnomAD v4 |
| 11 | g.116832887C>A | CA942608793 | APOC3 | c.*3C>A (n.*3C>A) c.357C>A (n.357C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832887C= | CA2002760326 | APOC3 | c.*3C= (n.*3C=) c.357C= (n.357C=) | |
| 11 | g.116832887C>T | CA601826027 | APOC3 | c.*3C>T (n.*3C>T) c.357C>T (n.357C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832888C= | CA2002760327 | APOC3 | c.*4C= (n.*4C=) c.358C= (n.358C=) | |
| 11 | g.116832888C>T | CA229321058 | APOC3 | c.*4C>T (n.*4C>T) c.358C>T (n.358C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832889T>G | CA601826028 | APOC3 | c.*5T>G (n.*5T>G) c.359T>G (n.359T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832889T= | CA2002760328 | APOC3 | c.*5T= (n.*5T=) c.359T= (n.359T=) | |
| 11 | g.116832892A= | CA2002760329 | APOC3 | c.*8A= (n.*8A=) c.362A= (n.362A=) | |
| 11 | g.116832892A>G | CA6289710 | APOC3 | c.*8A>G (n.*8A>G) c.362A>G (n.362A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832893T>C | CA601826031 | APOC3 | c.*9T>C (n.*9T>C) c.363T>C (n.363T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832893T= | CA2002760330 | APOC3 | c.*9T= (n.*9T=) c.363T= (n.363T=) | |
| 11 | g.116832894A= | CA2002760331 | APOC3 | c.*10A= (n.*10A=) c.364A= (n.364A=) | |
| 11 | g.116832894A>C | CA6289711 | APOC3 | c.*10A>C (n.*10A>C) c.364A>C (n.364A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832894A>G | CA942608796 | APOC3 | c.*10A>G (n.*10A>G) c.364A>G (n.364A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832895C>T | CA2725025339 | APOC3 | c.*11C>T (n.*11C>T) c.365C>T (n.365C>T) | dbSNP |
| 11 | g.116832896C>A | CA2616111297 | APOC3 | c.*12C>A (n.*12C>A) c.366C>A (n.366C>A) | gnomAD v4 |
| 11 | g.116832897C>T | CA2616111298 | APOC3 | c.*13C>T (n.*13C>T) c.367C>T (n.367C>T) | gnomAD v4 |
| 11 | g.116832900A>G | CA2616111299 | APOC3 | c.*16A>G (n.*16A>G) c.370A>G (n.370A>G) | gnomAD v4 |
| 11 | g.116832900A>T | CA2616111300 | APOC3 | c.*16A>T (n.*16A>T) c.370A>T (n.370A>T) | gnomAD v4 |
| 11 | g.116832901G= | CA2002760332 | APOC3 | c.*17G= (n.*17G=) c.371G= (n.371G=) | |
| 11 | g.116832901G>T | CA601826033 | APOC3 | c.*17G>T (n.*17G>T) c.371G>T (n.371G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832902T>A | CA476868985 | APOC3 | c.*18T>A (n.*18T>A) c.372T>A (n.372T>A) | gnomAD v4 |
| 11 | g.116832902T>C | CA6289712 | APOC3 | c.*18T>C (n.*18T>C) c.372T>C (n.372T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832902T= | CA2002760333 | APOC3 | c.*18T= (n.*18T=) c.372T= (n.372T=) | |
| 11 | g.116832903C>A | CA2616111301 | APOC3 | c.*19C>A (n.*19C>A) c.373C>A (n.373C>A) | gnomAD v4 |
| 11 | g.116832904dup | CA6289713 | APOC3 | c.*20dup (n.*20dup) c.374dup (n.374dup) | dbSNP ExAC gnomAD v2 |
| 11 | g.116832905A= | CA2002760334 | APOC3 | c.*21A= (n.*21A=) c.375A= (n.375A=) | |
| 11 | g.116832905A>C | CA6289714 | APOC3 | c.*21A>C (n.*21A>C) c.375A>C (n.375A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832905A>T | CA942608800 | APOC3 | c.*21A>T (n.*21A>T) c.375A>T (n.375A>T) | dbSNP gnomAD v3 gnomAD v4 |